Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

8 matching diseasesClear search ×

Small bowel atresia

Atresia of small bowel · SBA

ORPHA:1201

Stromme syndrome

Jejunal atresia-microcephaly-ocular anomalies syndrome · Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome

ORPHA:506307

Atresia of urethra

Urethral atresia

ORPHA:105

Choanal atresia

ORPHA:137914

Duodenal atresia

ORPHA:1203

Mitral atresia

ORPHA:1205

Tracheal agenesis

Tracheal atresia

ORPHA:3346

Vaginal atresia

ORPHA:65681